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Entry Name Description Category Pathway Gene
H00172 Maple syrup urine disease Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder caused by a defect in the oxidative decarboxylation of branched-chain amino acids (BCAA) leading to mental and physical retardation ... Inherited metabolic disorder (MSUD1A) BCKDHA [HSA:593] [KO:K00166]
(MSUD1B) BCKDHB [HSA:594] [KO:K00167]
(MSUD2) DBT [HSA:1629] [KO:K09699]
(DLDD) DLD [HSA:1738] [KO:K00382]
(MSUDMV) PPM1K [HSA:152926] [KO:K17505]
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